CEP78 (centrosomal protein 78)

Gene

• Entrez ID: 84131
• Gene name: Centrosomal protein 78
• Gene symbol: CEP78
• Synonyms (NCBI Gene): C9orf81, CRDHL, IP63
• Chromosome: 9
• Chromosome location: 9q21.2
• Summary: This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs745750156	G>A	Pathogenic	Intron variant
rs1014151821	A>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1057517691	G>T	Pathogenic	Splice donor variant
rs1057517692	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057517693	G>A	Pathogenic	Intron variant
rs1057517694	G>A	Pathogenic	Splice acceptor variant
rs1057517695	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057518753	A>G	Pathogenic	Splice acceptor variant
rs1273366435	AGAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT026788	hsa-miR-192-5p	Microarray	19074876
MIRT042634	hsa-miR-423-3p	CLASH	23622248
MIRT643674	hsa-miR-3938	HITS-CLIP	23824327
MIRT643673	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT643672	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT515083	hsa-miR-4438	PAR-CLIP	23446348
MIRT515082	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT515081	hsa-miR-4537	PAR-CLIP	23446348
MIRT515080	hsa-miR-5095	PAR-CLIP	23446348
MIRT515079	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515078	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT515077	hsa-miR-1228-3p	PAR-CLIP	23446348
MIRT515075	hsa-miR-6765-3p	PAR-CLIP	23446348
MIRT515076	hsa-miR-874-5p	PAR-CLIP	23446348
MIRT515073	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT515074	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT643674	hsa-miR-3938	HITS-CLIP	23824327
MIRT643673	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT643672	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT515083	hsa-miR-4438	PAR-CLIP	23446348
MIRT515082	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT515081	hsa-miR-4537	PAR-CLIP	23446348
MIRT515080	hsa-miR-5095	PAR-CLIP	23446348
MIRT515079	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT515078	hsa-miR-619-5p	PAR-CLIP	23446348
MIRT515077	hsa-miR-1228-3p	PAR-CLIP	23446348
MIRT515075	hsa-miR-6765-3p	PAR-CLIP	23446348
MIRT515076	hsa-miR-874-5p	PAR-CLIP	23446348
MIRT515073	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT515074	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT886471	hsa-miR-1243	CLIP-seq
MIRT886472	hsa-miR-1269	CLIP-seq
MIRT886473	hsa-miR-1269b	CLIP-seq
MIRT886474	hsa-miR-1288	CLIP-seq
MIRT886475	hsa-miR-1290	CLIP-seq
MIRT886476	hsa-miR-3167	CLIP-seq
MIRT886477	hsa-miR-34c-3p	CLIP-seq
MIRT886478	hsa-miR-3681	CLIP-seq
MIRT886479	hsa-miR-3942-3p	CLIP-seq
MIRT886480	hsa-miR-4515	CLIP-seq
MIRT886481	hsa-miR-4699-3p	CLIP-seq
MIRT886482	hsa-miR-4740-5p	CLIP-seq
MIRT886483	hsa-miR-876-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000086	Process	G2/M transition of mitotic cell cycle	TAS
GO:0005813	Component	Centrosome	IBA	21873635
GO:0005813	Component	Centrosome	IDA	21399614, 27246242
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	TAS
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	TAS
GO:0036064	Component	Ciliary basal body	IDA	27588451
GO:0044782	Process	Cilium organization	IMP	27588451
GO:0097711	Process	Ciliary basal body-plasma membrane docking	TAS

Other IDs

• MIM: 617110
• HGNC: 25740
• e!Ensembl: ENSG00000148019

Protein

• UniProt ID: Q5JTW2
• Protein name: Centrosomal protein of 78 kDa (Cep78)
• Protein function: Centriole wall protein that localizes to mature centrioles and regulates centriole and cilia biogenesis (PubMed:27246242, PubMed:27588451, PubMed:28242748, PubMed:34259627). Involved in centrosome duplication: required for efficient PLK4 centros
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13516	LRR_6	146 → 169	Leucine Rich repeat	Repeat
  PF13516	LRR_6	254 → 277	Leucine Rich repeat	Repeat

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (PubMed:27588451, PubMed:27588452). Expressed in different retinal cell types with higher expression in cone compared to rod cells (at protein level) (PubMed:27588452). {ECO:0000269|PubMed:27588451, ECO:0000269|PubMed:
• Sequence:

  MIDSVKLRRDSAADFFSHYEYLCALQNSVPLPAVRACLREGVLDFNADRLRGVDWAPLLS
  TLKINKDLPLVSIKSFFQPWLGDTGSDMNKFCRSRVPAIRYKDVTFQLCKALKGCLSISS
  VLKNLELNGLILRERDLTILAKGLNKSASLVHLSLANCPIGDGGLEIICQGIKSSITLKT
  VNFTGCNLTWQGADHMAKILKYQTMRRHEETWAESLRYRRPDLDCMAGLRRITLNCNTLI
  GDLGACAFADSLSEDLWLRALDLQQCGLTNEGAKALLEALETNTTLVVLDIRKNPLIDHS
  MMKAVIKKVLQNGRSAKSEYQWITSPSVKEPSKTAKQKRRTIILGSGHKGKATIRIGLAT
  KKPVSSGRKHSLGKEYYAPAPLPPGVSGFLPWRTAERAKRHRGFPLIKTRDICNQLQQPG
  FPVTVTVESPSSSEVEEVDDSSESVHEVPEKTSIEQEALQEKLEECLKQLKEERVIRLKV
  DKRVSELEHENAQLRNINFSLSEALHAQSLTNMILDDEGVLGSIENSFQKFHAFLDLLKD
  AGLGQLATMAGIDQSDFQLLGHPQMTSTVSNPPKEEKKALEDEKPEPKQNALGQMQNIQF
  QKITGDARIPLPLDSFPVPVSTPEGLGTSSNNLGVPATEQRQESFEGFIARMCSPSPDAT
  SGTGSQRKEEELSRNSRSSSEKKTKTESH

• Sequence length: 689

Pathways

Reactome:

Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
AURKA Activation by TPX2

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cone-rod dystrophy	Cone-Rod Dystrophies	rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209, rs104894672, rs61748436, rs2123743692, rs61751408, rs61751374, rs61750200, rs62642560, rs61752410, rs121909206, rs387906388, rs61753033, rs61750172, rs61750173, rs267606857, rs606231180, rs606231181, rs137852551, rs863223294, rs61755792, rs61755786, rs62625014, rs781781440, rs137853932, rs1064792853, rs387907136, rs397517974, rs397517994, rs786200944, rs398123044, rs398122960, rs61752435, rs1800728, rs398124354, rs61749679, rs61750184, rs61755781, rs281865373, rs62653029, rs62635009, rs281865297, rs61748558, rs61749409, rs61750202, rs61750065, rs61751398, rs61750146, rs281865377, rs61751388, rs62646861, rs61750158, rs61751403, rs62646872, rs61750575, rs61751407, rs61750645, rs281865516, rs61751266, rs137853907, rs483353055, rs587777469, rs587777470, rs587777471, rs199882533, rs76216585, rs587777693, rs587777694, rs786205151, rs150115958, rs2723341, rs201422368, rs786205664, rs746559651, rs786205665, rs786205661, rs794727197, rs192003551, rs886041039, rs863224913, rs771214648, rs863225090, rs751163782, rs875989778, rs886044750, rs768278935, rs886044735, rs201471607, rs61752398, rs878853400, rs886037880, rs886037881, rs886039559, rs748706582, rs886039882, rs886041900, rs886042153, rs749526785, rs1057516195, rs1057516199, rs543698823, rs199840367, rs752175052, rs1085307121, rs104893793, rs1064797182, rs1131691378, rs778234759, rs1553193813, rs373331232, rs756678484, rs780667159, rs1557110499, rs1553901823, rs201587670, rs1439202144, rs1555635778, rs1429786931, rs1553187160, rs1553188916, rs1555345387, rs61749412, rs951379922, rs1554186472, rs767528365, rs1210104601, rs776289402, rs750740765, rs544616523, rs75459701, rs759940113, rs1557787559, rs782581701, rs771116776, rs1006935198, rs755733328, rs1560141393, rs121918567, rs752263228, rs775957498, rs1030149008, rs530749007, rs141823837, rs1570393848, rs1571250020, rs1570382663, rs78484040, rs766357803, rs1437021651, rs1601982595, rs1597331616, rs748798324, rs759408031, rs747512450, rs373680665, rs1355802816, rs374017889, rs1589307705, rs376500610, rs1598146173, rs1598149154, rs752619497, rs1571257937, rs1572829866, rs1426009756, rs1464167194, rs1588391640, rs1588865728, rs1589306127, rs1420750126, rs1598150539, rs1598150793, rs1601972449, rs782740998, rs767366723, rs1602653110, rs778456901, rs1662213462, rs1662507319, rs751644763, rs1689012192, rs1667508280, rs1719285721, rs1734066547, rs1800111659, rs1827340429, rs1196886096, rs1882924778, rs2046020472, rs2046113301, rs1594280740, rs1590681805, rs1570373408, rs369973540, rs1005271380, rs368213921, rs535922252, rs745741473, rs138370992, rs772656461, rs749738655, rs1968173024, rs746128841, rs1887576038, rs909373397, rs750116711, rs1659840790, rs1768016995, rs1186795749
Cone-rod dystrophy and hearing loss	CONE-ROD DYSTROPHY AND HEARING LOSS	rs1057517691, rs1057517692, rs1057517693, rs1057517694, rs1057517695, rs745750156, rs1057518753, rs749314857, rs1341298773, rs1369076411, rs1568820302, rs774702094, rs1196886096, rs759754640, rs778035330, rs200083040	28005958, 27588451, 27588452, 27627988
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Age-related macular degeneration	Age related macular degeneration	rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313
Usher syndrome	Usher Syndrome, Type III, Usher syndrome type 3	rs80338903, rs397518008, rs111033367, rs121912598, rs121912599, rs80338902, rs111033364, rs111033272, rs121912600, rs587776538, rs111033334, rs137852839, rs137852840, rs2133130286, rs104894651, rs730880268, rs397515345, rs587776546, rs104894652, rs121908140, rs121908141, rs1085307049, rs111033258, rs121908142, rs111033267, rs1553776036, rs121908347, rs111033270, rs727502931, rs121908349, rs121908350, rs111033271, rs121908351, rs796051861, rs121908354, rs1307471318, rs137853001, rs199469706, rs111033260, rs137853003, rs137853004, rs1480243085, rs397515359, rs55983148, rs151045328, rs1403777293, rs121908370, rs121909762, rs796051863, rs796051864, rs796051865, rs121909763, rs796051866, rs796051867, rs121965079, rs41298133, rs1555062984, rs28934610, rs121965080, rs121965081, rs121965082, rs121965083, rs35689081, rs121965085, rs1555102843, rs113624356, rs267606932, rs201539845, rs387906700, rs1554135663, rs775098953, rs786200928, rs786205115, rs786205116, rs587776894, rs1589229634, rs1306987034, rs778110397, rs111033415, rs111033206, rs111033180, rs111033201, rs111033290, rs397516295, rs111033233, rs199897298, rs397516303, rs111033178, rs397516304, rs111033347, rs111033403, rs111033187, rs397516308, rs397516315, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516321, rs397516322, rs111033215, rs199606180, rs397516323, rs111033192, rs111033232, rs397516326, rs111033198, rs111033486, rs111033283, rs397516330, rs397516332, rs111033284, rs111033285, rs397517329, rs397517342, rs183431253, rs367928692, rs397517350, rs370983472, rs397517353, rs397517367, rs371981035, rs397517451, rs397517452, rs202033121, rs397517925, rs397517932, rs374963432, rs397517964, rs369522997, rs111033379, rs111033264, rs202175091, rs111033265, rs111033418, rs111033382, rs397517973, rs397517974, rs397517976, rs397517977, rs397517978, rs151148854, rs111033526, rs111033518, rs397517981, rs397517983, rs397517984, rs111033385, rs397517988, rs397517989, rs397517990, rs397517994, rs111033273, rs397518003, rs397518010, rs397518011, rs397518012, rs397518013, rs397518014, rs397518015, rs375668376, rs397518021, rs397518022, rs397518023, rs111033386, rs111033268, rs397518029, rs111033280, rs397518036, rs397518039, rs397518041, rs397518043, rs41308425, rs397518048, rs73090721, rs111033263, rs267600727, rs398124618, rs398124619, rs137853923, rs483353055, rs483353056, rs527236132, rs527236131, rs527236133, rs527236139, rs527236138, rs527236137, rs527236124, rs527236135, rs527236136, rs727504551, rs727505116, rs727503731, rs146733615, rs727504867, rs727503715, rs727505343, rs727503723, rs727503725, rs730880349, rs727505337, rs727503736, rs727504893, rs727504301, rs727503329, rs373169422, rs730880367, rs376764423, rs377670513, rs797044491, rs797044492, rs797044510, rs782252317, rs797044511, rs797044516, rs797044518, rs746523071, rs786204428, rs748706627, rs750228923, rs794727408, rs794727579, rs201657446, rs372347027, rs148660051, rs779791079, rs753330544, rs794729204, rs797045113, rs368049814, rs863224941, rs876657624, rs886037762, rs869312182, rs869312180, rs869312179, rs869312178, rs754391973, rs869312181, rs876657415, rs1057519383, rs760225886, rs766590491, rs876657733, rs876657731, rs397517963, rs876657730, rs773404494, rs876657754, rs753886326, rs876657655, rs782255281, rs1555090368, rs878853233, rs775177930, rs368675850, rs878853407, rs878853413, rs878853405, rs878853404, rs765293412, rs878853410, rs878853378, rs751130485, rs886039450, rs886039449, rs748810737, rs886039867, rs886039893, rs886041502, rs750396156, rs371777049, rs773539640, rs886043626, rs1057517533, rs536593247, rs373208120, rs1057516687, rs1057517224, rs989521806, rs1057516560, rs1057516613, rs1057516351, rs1057516472, rs1057516821, rs758921360, rs1057516780, rs1057516268, rs770832663, rs1057516656, rs1057516974, rs1057517325, rs1057517284, rs758685587, rs1057516342, rs201328768, rs757027638, rs781148814, rs138983888, rs1057517261, rs1057517443, rs1057516474, rs1057517150, rs1057517251, rs1057516892, rs758947077, rs370261904, rs1057517048, rs1057516470, rs1057517182, rs1057517264, rs1057516992, rs1057516770, rs138138689, rs377145777, rs201892914, rs376535635, rs374536346, rs752179149, rs1057518826, rs1057519193, rs1057519225, rs369793306, rs759898765, rs397517979, rs199840367, rs1057520662, rs763797356, rs1057520709, rs1060499714, rs1060499716, rs1060499796, rs1060499800, rs1060499801, rs747656448, rs1064793289, rs200712760, rs1064795047, rs1064793745, rs137954284, rs750803248, rs1064795722, rs750358148, rs1064797134, rs1064797136, rs1064797138, rs1064797153, rs753886165, rs1553258031, rs539192853, rs749702843, rs1003869920, rs1553252388, rs762159022, rs1362058696, rs1553252528, rs1553257502, rs1288381992, rs1285853856, rs1388040238, rs751111524, rs1035024403, rs1553298240, rs746551311, rs1215540106, rs780308389, rs1338169194, rs772808534, rs1554090072, rs777309662, rs1554117973, rs749956288, rs1355262412, rs1555051390, rs116892396, rs782166819, rs782063761, rs1555078942, rs1171417339, rs1555090294, rs1199012623, rs1383147250, rs1555069238, rs1461319754, rs750880909, rs1264310782, rs1553299022, rs754768875, rs1555627787, rs1366496013, rs774573692, rs534534437, rs769838859, rs762551629, rs761469964, rs201730567, rs769348776, rs1553327452, rs1553320397, rs757696771, rs199679165, rs143344549, rs777465132, rs769215629, rs769433759, rs1555051455, rs782539587, rs751176116, rs1553268563, rs141672841, rs866435331, rs782077721, rs1553320542, rs1554857840, rs1554877007, rs936479651, rs148695069, rs1561416879, rs765476745, rs768161313, rs1553252499, rs1553248234, rs1553250192, rs1553252041, rs1177257719, rs200871041, rs1553248216, rs1553261478, rs757676723, rs747160949, rs764917754, rs1295968274, rs764182950, rs753505333, rs747063294, rs1553252052, rs367674026, rs779572631, rs1553257707, rs746447649, rs1553268562, rs1553271002, rs1431048303, rs749452910, rs1553273330, rs1553274448, rs779716464, rs1553257705, rs1485173724, rs1553261372, rs1553250050, rs1553285919, rs1553287118, rs1553250150, rs1553299079, rs1162305984, rs1553250184, rs199782530, rs370327669, rs944675223, rs199982344, rs1553313308, rs1553261479, rs988693758, rs760302201, rs1553313810, rs1414935620, rs749726310, rs1380261595, rs770383273, rs993185407, rs483353054, rs1553273412, rs1269642027, rs1553268582, rs762608746, rs780779563, rs1553287070, rs1553294144, rs772124060, rs1553258122, rs775293551, rs1553272201, rs754374132, rs1553300016, rs1553274424, rs1553300558, rs772100045, rs771051185, rs1553272176, rs1553273421, rs143521854, rs1553300340, rs745350407, rs756623509, rs764797292, rs1284826852, rs767078782, rs1342455785, rs1553320451, rs1177198729, rs372927796, rs1553250627, rs1394737087, rs748961218, rs771583281, rs1188025733, rs868562952, rs758571672, rs1553250952, rs1171672823, rs758303489, rs1553257761, rs1484339054, rs1553258097, rs1553258037, rs781223647, rs376155416, rs1553776061, rs1553776112, rs1553776052, rs1553776135, rs1553772595, rs1553776132, rs1554822897, rs1554823229, rs1554833242, rs1554836566, rs1402893508, rs1554882546, rs1554956088, rs1554806149, rs1554903842, rs1168400018, rs1555032952, rs903145299, rs1554934073, rs1554940316, rs1554822703, rs1554823231, rs1554824185, rs1328440878, rs1554833227, rs1554833314, rs1554872194, rs1554833699, rs1554822891, rs756692340, rs1554833249, rs1554852472, rs1554873550, rs1554883705, rs1554956023, rs1554816541, rs1554903979, rs143842048, rs1304228309, rs1555135419, rs147956944, rs1482487617, rs1207247951, rs1317951509, rs1385324903, rs782787126, rs782064437, rs782292032, rs1472566324, rs766641715, rs1555095933, rs1555099541, rs878864531, rs548172627, rs1555067667, rs755934966, rs1558151555, rs1560449207, rs1253419936, rs1564796487, rs1557720377, rs1564634581, rs767797828, rs201866631, rs1262416703, rs750647872, rs765574676, rs781989117, rs1568445893, rs727502919, rs1558111861, rs1561660434, rs1564794944, rs745571683, rs762226905, rs1558141330, rs758660532, rs41314534, rs1301139848, rs777629750, rs1039517349, rs1190307769, rs749314857, rs1564796673, rs1564808024, rs1561441451, rs1561543496, rs377650415, rs1561790371, rs1561843914, rs1316299165, rs1561805689, rs1559982739, rs1561740143, rs1571657875, rs1360258103, rs201863550, rs754970095, rs201205811, rs760858249, rs770329105, rs759187261, rs1200012430, rs1293202153, rs1591095476, rs1571801514, rs1230303971, rs1580905929, rs1581711527, rs1571949388, rs368770647, rs1571783742, rs1572020896, rs759433119, rs1572088481, rs1415484067, rs1415157305, rs1571703770, rs933370216, rs1439933768, rs1580845586, rs765376986, rs1581135405, rs1589950125, rs1590691343, rs1571703801, rs1386612395, rs1576651623, rs1580567084, rs1276890742, rs1591467894, rs1571876788, rs1580864592, rs764583867, rs1571945476, rs1571953449, rs1571686349, rs1571762632, rs1571941511, rs368687374, rs45555435, rs777701725, rs201625237, rs1576631624, rs1581041519, rs1581196586, rs750027965, rs1591286671, rs1591470904, rs1598584825, rs1656419435, rs754834155, rs1657799383, rs1657965422, rs1657996197, rs1662772955, rs1667316878, rs2030619513, rs2034849647, rs2034850724, rs2034948574, rs2036152207, rs1571701069, rs2038569132, rs2039616380, rs929034631, rs1767988429, rs1416386069, rs1841885880, rs1850678559, rs1850961650, rs1954240719, rs782396605, rs1956938352, rs1571947757, rs1358947010, rs1571701072, rs1571801788, rs1384677442, rs1292050472, rs1591286221, rs1555067598, rs1591369118, rs1296612982, rs760251968, rs1571929573, rs774677256, rs1571657777, rs376674482, rs746618021, rs201845656, rs1580624630, rs1591467918, rs750321557, rs1403618793, rs780036975, rs1424639717, rs1667314337, rs2032147505, rs201529124, rs2034899784, rs376591221, rs1364987785, rs2039614529, rs756193571, rs771766431, rs759981467, rs782281371, rs778934538, rs1359109336, rs767630412, rs1841212177, rs758482449, rs1656901821, rs1662771528, rs1665132445, rs769198746, rs2034852728, rs757154662, rs757525434, rs1758488956, rs1764301206, rs749747871, rs780609120, rs1235430504, rs2034951427, rs1661659605, rs1657036615, rs2034938852	27627988

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Depressive disorder			ClinVar
Cone-Rod Dystrophy And Hearing Loss	cone-rod dystrophy and hearing loss 1, cone-rod dystrophy and hearing loss			GenCC
Usher Syndrome	Usher syndrome type 3			GenCC
Androgenetic Alopecia	Androgenetic Alopecia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Squamous Cell	Stimulate	33119552
Ciliopathies	Associate	27627988
Cone Rod Dystrophies	Associate	27588452, 31999394, 34130719, 34259627
Deafness Cataract Retinitis Pigmentosa And Sperm Abnormalities	Associate	31999394
Hearing Loss	Associate	31999394, 34021019, 34259627
Hearing Loss Sensorineural	Associate	27588452, 34223797
Infertility	Associate	31999394
Infertility Male	Associate	31999394
Neoplasms	Associate	33119552
Non Muscle Invasive Bladder Neoplasms	Associate	33119552
Refsum Disease Infantile	Associate	34130719
Retinal Diseases	Associate	34021019
Retinal Dystrophies	Associate	34130719
Urinary Bladder Neoplasms	Associate	33119552
Usher Syndromes	Associate	27588452, 27627988, 31999394